Abnormal facial shape, and Arthritis

Low match WINCHESTER SYNDROME; WNCHRS

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

• Short stature
• Flexion contracture
• Severe short stature
• Osteoporosis
• Coarse facial features

SOURCES: OMIM MENDELIAN

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

• Short stature
• Generalized hypotonia
• Muscle weakness
• Abnormal facial shape
• Flexion contracture

SOURCES: OMIM MENDELIAN

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

• Short stature
• Hearing impairment
• Scoliosis
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET MENDELIAN

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

• Hypertelorism
• Abnormal facial shape
• Low-set ears
• Motor delay
• Macrocephaly

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

• Short stature
• Brachydactyly
• Gait disturbance
• Severe short stature
• Arthralgia

SOURCES: ORPHANET OMIM MENDELIAN

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

• Short stature
• Abnormal facial shape
• Pain
• Depressed nasal bridge
• Brachydactyly

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

• Intellectual disability
• Micrognathia
• Abnormal facial shape
• Motor delay
• Brachydactyly

SOURCES: ORPHANET MENDELIAN

Low match CONGENITAL TUFTING ENTEROPATHY

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly
• Hypertelorism

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

• Seizures
• Global developmental delay
• Hypertelorism
• Abnormal facial shape
• Depressed nasal bridge

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

• Micrognathia
• Abnormal facial shape
• Cryptorchidism
• Ptosis
• Abnormality of the skeletal system

SOURCES: OMIM MENDELIAN